Do patients who achieve pregnancy using IVF-PGS do the recommended genetic diagnostic testing in pregnancy?

Purpose: Patients undergoing in-vitro fertilization (IVF) with preimplantation genetic screening (PGS) are counseled about the limitations of this technique. As part of the consent process for PGS, physicians recommend diagnostic genetic testing performed in early pregnancy to definitively rule out chromosomal abnormalities. We have noted anecdotally, however, that few patients undergo the recommended diagnostic testing. In this study, we are examining if women who conceived using IVF-PGS did early pregnancy chromosomal testing, and if they did, what type of testing they had.

Methods: This study was performed from 2015 to 2017 in the Division of Reproductive Endocrinology and Infertility at Northwestern University. We included patients who became pregnant after IVF-PGS who were seen by the Division of Reproductive Genetics and non-PGS control group.

Results: Sixty-eight patients were included. A total of 50 patients (73.5%) opted for non-invasive prenatal screening; 5 (7.4%) had invasive testing (4 had chorionic villus sampling and 1 had amniocentesis). A total of 13 patients (19%) declined further genetic testing. When comparing demographic data, the mean age was significantly higher in the group of patients who pursued non-invasive testing than in the group who declined further testing (37.15 vs 34.05 years old, p < 0.05). Control group declined invasive diagnostic testing.

Conclusions: Most patients who conceive using IVF-PGS do not pursue diagnostic prenatal chromosomal testing. Future studies focusing on decision making in this patient group are warranted to further elucidate why a small percentage of patients opt for diagnostic testing, even when adequately counseled about the inherent limitations of PGS.